Treatment of Fanconi Anemia with New-Onset Bone Marrow Failure in Adolescents and Young Adults
This protocol addresses the management of adolescents and young adults—up to age 40—who have Fanconi anemia and develop new-onset bone marrow failure (BMF), in the absence of myeloid malignancy.
Clinical Scenario
The target population is AYA patients (up to age 40 years) with Fanconi anemia presenting with new-onset bone marrow failure and no identified myeloid malignancy. Clinicians should note that AYA patients presenting with BMF in association with certain chromosomal abnormalities, or with age-atypical solid tumors (oral, head/neck, or genital), warrant diagnostic evaluation for Fanconi anemia. The primary treatment goal is stable hematopoietic function.
Treatment Approach — Overview
In AYA patients, supportive medical therapy is the primary management strategy. Among available options, androgen-based treatment carries the most extensive supporting evidence in this setting, and patients may maintain stable hematopoietic function on this approach for extended periods.
References
DOI: 10.1182/hematology.2023000489
Any AYA patient (up to age 40 years) who presents with BMF or MM associated with 1q, 3q, or 7q copy number abnormalities/translocations or unusual solid tumors for age (oral, head/neck, genital) should undergo a diagnostic evaluation for FA.
In contrast, use of these supportive strategies is reasonable for new-onset BMF occurring in AYA patients, as these individuals are already at high age-based risk for HSCT complications.
While early data on use of metformin and eltrombopag hold promise, data supporting the use of androgen therapy are the most extensive.
Indeed, AYA patients with FA may exhibit stable hematopoietic function on androgen therapy for many years.
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